Variant report

Variant	rs10946742
Chromosome Location	chr6:25025717-25025718
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr6:25025578-25026138	K562	blood:	n/a	chr6:25025939-25025957
2	MAFK	chr6:25025524-25026147	K562	blood:	n/a	chr6:25025945-25025959 chr6:25025944-25025960 chr6:25025942-25025962 chr6:25025941-25025956
3	MAFK	chr6:25025505-25026128	H1-hESC	embryonic stem cell:	n/a	chr6:25025945-25025959 chr6:25025944-25025960 chr6:25025942-25025962 chr6:25025941-25025956
4	BACH1	chr6:25025480-25026231	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:25023746..25026604-chr6:25028842..25032564,3	K562	blood:
2	chr6:25024268..25027647-chr6:25028842..25032564,4	K562	blood:

Variant related genes	Relation type
ASS1P1	TF binding region
ENSG00000244618	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10806997	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10946743	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11758900	0.82[EUR][1000 genomes]
rs12194111	1.00[YRI][hapmap]
rs2183067	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2394360	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4712878	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4712879	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4712880	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6918101	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7748247	0.83[EUR][1000 genomes]
rs983223	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv883482	chr6:24926730-25035920	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1030634	chr6:24938277-25040161	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv830610	chr6:24951741-25124239	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25011200-25035600	Weak transcription	Spleen	Spleen
2	chr6:25015800-25027000	Weak transcription	Esophagus	oesophagus
3	chr6:25018200-25027400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:25018600-25026000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:25024200-25027000	Weak transcription	Small Intestine	intestine
6	chr6:25024600-25025800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:25024600-25026000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:25024600-25027000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:25024600-25027200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr6:25024600-25027600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:25024800-25025800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:25024800-25027200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:25024800-25027400	Enhancers	Primary hematopoietic stem cells	blood
14	chr6:25024800-25027600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:25024800-25027600	Enhancers	HMEC	breast
16	chr6:25024800-25028200	Enhancers	NHEK	skin
17	chr6:25024800-25028400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:25025000-25026600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:25025000-25027000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr6:25025000-25027400	Enhancers	Primary T cells from cord blood	blood
21	chr6:25025000-25027400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr6:25025000-25028000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr6:25025000-25028600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr6:25025200-25026400	Enhancers	Thymus	Thymus
25	chr6:25025200-25026800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:25025200-25028600	Enhancers	Fetal Thymus	thymus
27	chr6:25025400-25025800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr6:25025400-25025800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:25025400-25026000	Weak transcription	Dnd41	blood
30	chr6:25025400-25026200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:25025400-25026800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:25025400-25027000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:25025400-25027000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr6:25025400-25027200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:25025400-25028400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:25025600-25026000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:25025600-25026200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr6:25025600-25026200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr6:25025600-25026400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:25025600-25026400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:25025600-25027800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:25025600-25028000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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